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Angelman syndrome
1 OMIM reference -
5 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Kennedy disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
Angelman syndrome
Kennedy disease

ATP10A
(UniProt - OMIM)
 AR
(UniProt - OMIM)
CYFIP1
(UniProt - OMIM)
OCA2
(UniProt - OMIM)
SNRPN
(UniProt - OMIM)
UBE3A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
UBE3A
(0.83)
AR


Citations in the biomedical literature:


Angelman syndrome
ATP10A CYFIP1 OCA2 SNRPN UBE3A
Kennedy disease
AR



Angelman syndrome
Kennedy disease

Synonym(s):
(no synonyms)

Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: D017204
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hypotonia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Angelman syndrome
Kennedy disease

Very frequent
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Brachycephaly / flat occiput
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Face / facial anomalies
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcephaly
- Prognathism / prognathia
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Depressed premaxillary region / midface
- Hypereflexia
- Macrostomia / big mouth

Occasional
- Inguinal / inguinoscrotal / crural hernia
- Strabismus / squint


Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia